Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
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Clinical and Mechanistic Insights Into the Genetics of CardiomyopathyHeart failure: advanced development in genetics and epigeneticsA founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of lifeGenotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathyCardiac myosin binding protein-C: a novel sarcomeric target for gene therapyGenetic advances in sarcomeric cardiomyopathies: state of the art.Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation SequencingTitin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.Impaired contractile function due to decreased cardiac myosin binding protein C content in the sarcomereE258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Sex-related differences in the associations between plasma free fatty acid levels and clinical features in patients with hypertrophic cardiomyopathy.Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.Genetic testing in the contemporary diagnosis of cardiomyopathy.Genetic biomarkers in hypertrophic cardiomyopathy.Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects.The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position.The genetic basis of hypertrophic cardiomyopathy in cats and humans.Genetics of hypertrophic cardiomyopathy: A review of current state.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Using genetic testing to guide therapeutic decisions in cardiomyopathy.Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals.Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.Sexual dimorphic response to exercise in hypertrophic cardiomyopathy-associated MYBPC3-targeted knock-in mice.Hypertrophic cardiomyopathy: single gene disease or complex trait?Recent Developments in the Genetics of Cardiomyopathies
P2860
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P2860
Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Cardiac myosin binding protein ...... gender, and long term outcome.
@en
Cardiac myosin binding protein ...... gender, and long term outcome.
@nl
type
label
Cardiac myosin binding protein ...... gender, and long term outcome.
@en
Cardiac myosin binding protein ...... gender, and long term outcome.
@nl
prefLabel
Cardiac myosin binding protein ...... gender, and long term outcome.
@en
Cardiac myosin binding protein ...... gender, and long term outcome.
@nl
P2093
P50
P1476
Cardiac myosin binding protein ...... gender, and long term outcome
@en
P2093
Michael Christiansen
Perry M Elliott
Rune Frank-Hansen
Stavros Kounas
Stephen P Page
P304
P356
10.1161/CIRCGENETICS.111.960831
P577
2012-01-20T00:00:00Z